Neoplasms

Skin and Connective Tissue Diseases

All Conditions

Nutritional and Metabolic Diseases

Gland and Hormone Related Diseases

Nervous System Diseases

Symptoms and General Pathology

Infections

Urinary Tract, Sexual Organs, and Pregnancy Conditions

Immune System Diseases

Breast Neoplasms

Diabetes Mellitus

Neuralgia

Acquired Immunodeficiency Syndrome

HIV Infections

Pain

Peripheral Nervous System Diseases

Neuromuscular Diseases

Neurologic Manifestations

Christoph Stein, Prof.

The purpose of this study is to analyze associations between symptoms and specific markers in the blood in patients suffering from neuropathic pain linked to diseases of different origin. Such markers could be utilized in the future for precise diagnosis of neuropathic pain and might lead to targeted pain treatment.

On average, 3-8% of the German population suffers from neuropathic pain, which can occur after damage of somatosensory nerves in the peripheral or central nervous system. In terms of a "personalized" medicine, only a strict separation of neuropathic and chronic pain allows an individualized therapy to reduce pain severity and to enhance patients' quality of life.

Currently, the diagnosis of neuropathic pain is based on the medical history, the subjective description of somatosensory symptoms and the application of (non-genetic) diagnostic tests. To improve diagnosis and therapy of complex disorders for individual patients, novel methods are introduced based on flow cytometric (FACS) analysis of human immune cells or analysis of the human genome (genomics). Those techniques can support the identification of characteristic features indicating ongoing individual pathophysiologic processes in the body (biomarkers).

Often diseases are based on a complex relationship between genetics, environmental factors and the manifestation of the disease. To capture this complexity via genomics, phenotypical and genotypical data of high quality and detailed information about the study population are required.

This observational study includes patients suffering from painful and non-painful neuropathies associated with HIV-infection, diabetes mellitus and breast cancer. With the targeted application of validated questionnaires (such as the Brief Pain Inventory, Pain Catastrophizing Scale, Hospital Anxiety and Depression Scale, Ten-Item Personality Inventory, 36-Item Short Form Health Survey, and the Insomnia Severity Index) and parallel usage of genomics or FACS analysis of selected biomarkers in the blood, this study will provide information about the manifestation of certain genes or immune markers which are directly correlated to the symptoms of the disease. Additional performance of neuropsychological/cognitive tests and quantitative sensory testing (QST) will enhance the phenotypic profile. Identification of potential indicators could be utilized prospectively to precisely diagnose and effectively treat neuropathic pain.

Analysis of Markers in the Blood Correlated With Neuropathic Pain

Neuropathic Pain: Association Between Phenotype and Biomarkers

Investigation of associations between phenotypic and genotypic data. Patients with chronic painful and non-painful neuropathy will be phenotyped in detail using validated questionnaires related to pain (Brief Pain Inventory and Numeric Rating Scale), mental health (Pain Catastrophizing Scale and Hospital Anxiety and Depression Rating Scale), personality (Ten-Item Personality Inventory) and quality of life (36-Item Short Form Health Survey and Insomnia Severity Index). Optional, a set of neuropsychological/cognitive tests and quantitative sensory testing (QST) will be performed. DNA will be isolated from patients' blood samples and analyzed for genetic variants which might have an effect on the development of neuropathic pain. Once, phenotypic and genotypic data are available they will be associated with each other with the goal to find genetic variants tied to pain phenotypes and which might serve as novel DNA biomarkers for neuropathic pain.

deCODE genetics

Christoph Stein, MD

Clinical director

William D Figg, Pharm.D.

Background:

People's genetic markers and other genetic characteristics can affect their response to drug therapy. Researchers want to screen people for these markers and characteristics. They want to do this before the people are screened for studies at the National Cancer Institute. That should save time that can be lost when people go through the whole screening for a study only to find out they cannot join. The data collected may also be used to select the proper dose of anticancer agents that are being studied.

Objective:

To screen people for genetic markers and/or baseline characteristics. These will be used to determine if they can enroll in a clinical trial. They may also be used to select the proper dose of anticancer agents that are being tested.

Eligibility:

Adults 18 and older who are being considered for or being treated in a National Cancer Institute study

Design:

Participants will have their blood drawn for genetic tests.

Some participants will have a cheek swab.

Participants genetic data will be stored for future research. It could be shared with other researchers.

Background:

Genetic sequence of drug-metabolizing enzymes, transporters/receptors, transcription factors, drug targets, and patient baseline characteristics often affect an individual s response to drug therapy. Expression of such genes is also influenced by the epigenome and regulation by a variety of other factors: RNA expression, protein expression, disease state, comorbidities, concomitant therapies, etc. Therefore, inter-patient variability in drug pharmacokinetics and outcome is often a function of these factors.

Inter-individual differences in efficacy and toxicity of cancer chemotherapy are especially important given the narrow therapeutic index of these drugs.

During analysis of investigational agents, inter-individual variability in pharmacokinetics, pharmacodynamics, clinical outcome, and toxicity are often noted. Many of these differences are potentially clinically actionable and depend on the aforementioned markers.

Objectives:

To screen patients for genomic markers, epigenomic markers, RNA markers, protein markers, and/or baseline characteristics that are used inform either enrollment in therapeutic clinical trials or dose selection of investigational anticancer agents.

Eligibility:

All individuals seeking enrollment on National Cancer Institute clinical trials that include a priori assessment of a patients genome, epigenome, proteome, or baseline characteristics as eligibility criteria for enrollment or dose selection.

Design:

This study will be used as a screening protocol to enroll patients for a priori screening that is necessary for inclusion in IRB-approved clinical trials taking place at the NCI.

As the rationale for ascertaining the status of a marker prior to study inclusion will be presented in the associated clinical trial, the present study will be amended on a case-by-case basis.

The accrual ceiling for this study is 900 patients.

Prospective Screening for Patient-Specific Genotypes and Phenotypes That Influence Drug Dosing and Trial Selection in Cancer Patients

Prospective Screening for Patient Specific Genotypes and Phenotypes That Influence Drug Dosing and Trial Selection in Cancer Patients

Collection of 6 mL of peripheral blood to analyzed via DMET Plus kit for pathway genotype of enzymes and transporters with putative relevance for the drug of interest.

National Cancer Institute (NCI)

Respiratory Tract (Lung and Bronchial) Diseases

Rare Diseases

Lung Neoplasms

Small Cell Lung Carcinoma

Carcinoma

Respiratory Tract Neoplasms

Thoracic Neoplasms

Lung Diseases

Respiratory Tract Diseases

Carcinoma, Bronchogenic

Bronchial Neoplasms

Small Cell Lung Cancer

Antineoplastic Agents

All Drugs and Chemicals

Etoposide

Etoposide phosphate

Enzyme Inhibitors

* Etoposide Injection
* Chemotherapy
* Etoposide Injection
* Usual Approach Group

* Etoposide Capsule
* Chemotherapy
* Etoposide Capsule
* Study Approach Group

ETOPOSIDE - Usual

ETOPOSIDE - Study

HAN XU, MD/PhD/FAPCR

Explore the relationship between drug target topoisomerase II gene single nucleotide polymorphisms and Etoposide (VP-16) therapeutic-effects in patients with small cell lung cancer, based on Oxford precisely sequencing drug targets' genes.

Explore the relationship between drug target CYP4503A4 gene single nucleotide polymorphisms and Etoposide (VP-16) side-effects in patients with small cell lung cancer, based on Oxford precisely sequencing drug targets' genes.

The usual approach group, after lung tissue biopsy, 300 double blind random group separated SCLC patients currently used the Combined Chemotherapy on Etoposide Injection, it will try to look for the relationship between the ETOPOSIDE therapeutic efficacy and the Topoisomerase II SNP Genotyping, and the relationship between the ETOPOSIDE therapeutic safety and the CYP4503A4 SNP Genotyping, based on Oxford precisely sequencing drug targets' genes.

The study approach group, after lung tissue biopsy, 300 double blind random group separated SCLC patients currently used the Combined Chemotherapy on Etoposide Capsule, it will try to look for the relationship between the ETOPOSIDE therapeutic efficacy and the Topoisomerase II SNP Genotyping, and the relationship between the ETOPOSIDE therapeutic safety and the CYP4503A4 SNP Genotyping, based on Oxford precisely sequencing drug targets' genes.

* 1) Detect drug target whole gene precision sequence of everyone patient for all 600 recruited double blind SCLC patients.
* 2) Mutually compare everyone patient drug target whole gene precision sequence for a total of 600 recruited double blind SCLC patients.
* 3) Calculate drug target gene SNPs in all 600 recruited double blind SCLC patients.
* 4) Correlate everyone patient drug target gene SNP to everyone patient drug efficacy.
* 5) Correlate everyone patient drug target gene SNP to everyone patient drug safety.
* 6) Mutually compare the usual approach group SNPs (300 double blind random group separated SCLC patients) with the study approach group SNPs (300 double blind random group separated SCLC patients).
* 7) Confirm the relationship between drug target gene SNPs and drug efficacy.
* 8) Confirm the relationship between drug target gene SNPs and drug safety.

* The usual approach group (injection)
* The study approach group (oral)

Pharmacogenomics IND EXEMPT SNP Clinical Study - Etoposide and Single Nucleotide Polymorphisms

Explore the Relationship Between Single Nucleotide Polymorphisms and Etoposide Response and Toxicity in Patients With Small Cell Lung Cancer.

1. Recruit 300 double blind random group separated SCLC patients currently used the Combined Chemotherapy on Etoposide Injection after lung tissue biopsy, like as the usual approach group.
2. Recruit 300 double blind random group separated SCLC patients currently used the Combined Chemotherapy on Etoposide Capsule after lung tissue biopsy, like as the study approach group.
3. Assay above every SCLC patient-specific Etoposide (VP-16) drug target (Topoisomerase II) SNP genotype in his or her SCLC cell whole genome DNA with Oxford precisely sequencing.
4. Assay above every SCLC patient-specific Etoposide (VP-16) drug target (CYP4503A4) SNP genotype in his or her WBC cell whole genome DNA with Oxford precisely sequencing.

UnitedHealthcare

Han Xu, M.D., Ph.D., FAPCR, Sponsor-Investigator, IRB Chair

M.D., Ph.D., Sponsor-Investigator, Medical Director, Medical Monitor, Safety Officer, IRB Chair

Carcinoma, Non-Small-Cell Lung

Carcinoma, Small Cell

Neoplasms, Glandular and Epithelial

Neoplasms by Histologic Type

Arun Rajan, M.D.

Background:

* The Lung Cancer section of the National Cancer Institute s Medical Oncology Branch is running a study to better understand which genes might be important in patients who are undergoing therapy for lung cancer.

Objectives:

* To find out if differences (also called polymorphisms) in specific genes lead to differences in outcomes (such as treatment success and survival rates) for patients who have been diagnosed with lung cancer.
* To establish a repository of genetic information for future studies of these differences and their relation to lung cancer.

Eligibility:

* Any individual who has been diagnosed with lung cancer and is being treated through the National Cancer Institute.

Design:

* After entrance in this study, patients will provide information to the researchers on age, gender, race/ethnicity, treatments received and response to treatments, and other specific information about their disease. This information will be kept confidential.
* Approximately half a tablespoon of blood will be drawn.
* Patients will be treated for lung cancer with normal treatment methods, as if they had not been enrolled in the study
* Some patients may be offered the option of enrolling in separate research protocols for cancer treatment, involving chemotherapy, surgery, or radiation.

Background:

* Lung cancer is the leading cause of cancer deaths among men and women worldwide.
* Despite modern surgical, radiation, and chemotherapeutic interventions, the prognosis for patients with lung cancer remains poor, with an overall cure rate of less than 15%.
* Genetic polymorphisms in drug-metabolizing enzymes, transporters, growth factor and hormonal receptors, DNA repair enzymes, and transcription factors might affect an individual s response to chemotherapy and radiation.
* Interindividual differences in efficacy and toxicity of cancer chemotherapy and radiation are especially important given the narrow therapeutic index of these modalities.
* Many of these differences have not been extensively explored in patients with lung cancer.

Objectives:

* To better understand the genotype-phenotype relationship between genetic polymorphisms and clinical outcomes, with a focus on overall survival, following lung cancer therapy.
* To better understand differences in outcome between Caucasian and African American patients being treated for lung cancer as a function of genotype.
* To establish a DNA repository for the investigation of polymorphisms related to outcomes in lung cancer.
* To develop methodology for the isolation, enumeration and live cell culture of circulating tumor cells (CTC) from lung cancer patients with microfiltration devices.

Eligibility:

- All individuals with the diagnosis of lung cancer being treated at the Washington D.C. Veterans Affairs Medical Center or the Medical Oncology Branch of the National Cancer Institute (NCI).

Design:

* A single 7-ml sample of venous blood will be obtained from all patients enrolled onto this study, for isolation of DNA.
* Two 5 ml samples of venous blood, drawn immediately following the 7 ml sample, will be obtained from all patients enrolled on this study at the NCI Clinical Center (only), for CTC studies.
* Polymorphisms in the following genes: ABCB1, ABCG2, COMT, CYP17, CYP19, CYP1B1, CYP1A1, CYP1A2, CYP2C8, CYP2C9, CYP2J2, CYP3A4, CYP3A5, DPYD, EPHX2, ERalpha, ERbeta, ERCC1, ERCC2, GSTP1, HIF1A, MPO, MTHFR, NQO1, p53, PPARD, SLCO1B3, TYMS, UGT1A1, VEGF, VEGFR, EGFR, SLC28A1, CDA, XRCC1, OCT1, OCT2, CHRNA3 and CHRNA5 will be analyzed by the Clinical Pharmacology Program.
* Methodology for the isolation, enumeration, and live cell culture of CTC with microfiltration devices will be developed by the NCI Genetics Branch.
* Patients will be followed at the medical oncology clinic at the Washington DC VA Medical Center or the NCI and the following information will be recorded in a confidential database: age, gender, race/ethnicity, smoking history, histology, stage, treatment(s) received, response, toxicity, time to disease progression, time to death.
* Associations between genetic polymorphisms and response to therapy, toxicity and clinical outcomes will be analyzed.
* The results of the CTC studies will be applied to the initial development and clinical

validation of CTC technology and lung cancer assays.

Prospective Analysis of Genotypes in Adults Undergoing Therapy for Lung Cancer

Breast Diseases

Skin Diseases

Bone Density Conservation Agents

Tamoxifen

Estrogens

Estrogen Antagonists

Estrogen Receptor Antagonists

Hormones

Hormone Antagonists

Antineoplastic Agents, Hormonal

Selective Estrogen Receptor Modulators

Estrogen Receptor Modulators

Eun Sook Lee, MD, PhD

The purpose of this study is to investigate the impact of CYP2D6 Genotype on the clinical effects of tamoxifen using with samples from prospective randomized multicenter study(ASTRRA).

CYP2D6 Genotype on the Clinical Effect of Tamoxifen

Impact of CYP2D6 Genotype on the Clinical Effects of Tamoxifen Using With Samples From Prospective Randomized Multicenter Study

National Cancer Center, Korea

Korean Breast Cancer Study Group

Korea University Anam Hospital

Eun Sook, Lee

Blood and Lymph Conditions

Syndrome

Hematologic Neoplasms

Mycoses

Invasive Fungal Infections

Neutropenia

Genetic Predisposition to Disease

Candidiasis

Disease Susceptibility

Immune Reconstitution Inflammatory Syndrome

Communicable Diseases

Agranulocytosis

Leukopenia

Cytopenia

Hematologic Diseases

Leukocyte Disorders

Bacterial Infections

Bacterial Infections and Mycoses

Chronic Graft Versus Host Disease

Granulocytopenia

Systemic Candidiasis

Fluorodeoxyglucose F18

Radiopharmaceuticals

to determine whether F18 fluorodeoxyglucose (18F-FDG) positron-emission tomography scan (PET scan) is useful for the therapy strategy of hepatosplenic candidiasis.

18F-FDG PET Scan

The purpose of this study is to determine whether F18 fluorodeoxyglucose (18F-FDG) positron-emission tomography scan (PET scan) is useful for the therapy strategy of hepatosplenic candidiasis.

Chronic disseminated candidiasis, often referred to as hepatosplenic candidiasis (HSC), is an infection due to Candida spp. that mainly involves the liver and spleen. HSC occurs mostly in patients with profound and prolonged neutropenia, which is more often seen in patients with hematologic malignancies. Despite an appropriate antifungal prophylaxis, the incidence of HSC in France might be closed to 5% in patients suffering from acute leukemia. Early and adequate diagnosis and treatment of HSC are crucial, as treatment delays can negatively affect the prognosis of the underlying condition. Current guidelines recommend a 6-month duration treatment. Prolonged treatments up to 6 months are frequent, leading to antifungal toxicity and cost increase. Preliminary study by our team has already assessed F18 fluorodeoxyglucose (18F-FDG) positron-emission tomography scan (PET scan) as a diagnostic tool for HSC. 18F-FDG PET scan could be helpful in the diagnosis, follow-up and therapy strategy of HSC, helping to stop antifungal treatment. Other molecular, immunological and serological tools have to be developed in order to avoid hepatic biopsies. Actually, mycological evidence of infection is found in only 20% of the cases. The pathogenesis of HSC is also not well understood, but it is believed that it may be due to an unbalanced adaptive immune response that leads to an exacerbated inflammatory reaction, resulting in an Immune Reconstitution Inflammatory Syndrome (IRIS). In that context, a better understanding of the disease pathophysiology and of the potential genetic susceptibility could have an impact on therapy strategy. For example, new approaches such as the use of adjuvant high-dose corticosteroids have been shown beneficial. This study is the first step to improve HSC diagnosis and therapy strategy.

Hepatosplenic CANdidiasis : PETscan and Immune Response Analysis

Multicenter Prospective Pilot Study Investigating Pathophysiology, Diagnostic and Therapeutic Strategies of Hepatosplenic Candidiasis

Clinical assessment (no fever) and PET scan assessment (intensity of liver and/or spleen lesions)

Comparison between Day 0 and Month 3 exams

Measurement of beta-1,3-D-glucans, mannan/anti-mannan, anti-Saccharomyces cerevisiae antibodies in comparison with controls.

Assessment of a new real-time PCR on serum and hepatic tissue

Measurement of cytokines and lymphocytes populations on serum and hepatic tissue in comparison with controls

Search for susceptibility genes to candidiasis in comparison with controls

University of Lausanne Hospitals

University Hospital, Lille

Institut Pasteur

Institut National de la Santé Et de la Recherche Médicale, France

Assistance Publique - Hôpitaux de Paris

Neoplasm Metastasis

Blood samples and, for some patients, buccal (mouth cell) samples will be collected at diagnosis and/or relapse. Solid tumor samples will be collected in the normal course of treatment, from biopsy, blood or other specimens. For blood-based cancers such as leukemia, blood and bone marrow specimens will be collected before treatment begins, on day 29 and possibly at a later time point if relapse occurs.

Patients may meet, depending on test results, with their physician and a genetic counselor to discuss possible changes in their treatment options and/or lifestyle changes.

Cancer Treatment Options

Stuart S Winter, MD

The goal of this study is to develop a new, local system that will use special tests based on patients' genetic makeup to better tailor cancer care at the University of New Mexico Cancer Center.

The Food and Drug Administration has already approved over forty (40) drugs to treat cancer patients based on specific genetic makeup, and more agents are in development that will support this new approach to treatment, often referred to as "personalized medicine."

The goal of performing specific tests on patients' genetic material is to discover tumor-specific, single nucleotide variations (SNVs) and other forms of genetic changes (called epigenetic changes) that can be detected when comparing normal tissue and tumor tissue. This can help guide cancer care decisions that may be more effective for patients. These will be called clinically actionable findings, or CAF.

Additional health related findings may be made, not related to cancer but to other conditions, diseases or syndromes. These are called secondary findings (SF). In this study the investigators will also measure how often they find SF and will discuss their possible impact on other aspects of patients' health. If patients want to know about these findings, they will be discussed with a panel of experts including genetic counselors.

Finally, the investigators will compare how often CAF and SF differ from those identified in nationwide samples.

For brevity, the investigators include the approaches of whole genome sequencing, whole exome sequencing of just the protein-coding exons, enrichment and sequencing of methylated DNA and RNA or transcriptome-sequencing under the broad category term, Whole Genome Sequencing (WGS).

The development of rapid and low cost next-generation genome sequencing technologies brings the promise of a new era of precision therapeutics to clinical practice, but it is associated with significant challenges, including reproducible generation of high-quality sequence data and the need for comprehensive data analysis and interpretation that is translatable to clinical action. Equally critical are the ethical, legal, and social issues surrounding the introduction of WGS testing and its clinical application in multiethnic, multicultural populations, particularly those who have historically experienced discrimination or even unethical research practices. Of particular concern are issues surrounding the privacy, ownership, storage, and use of WGS data.

Genome Sequencing of Human Cancer Tissues

The investigators will utilize new genomics technologies in to identify potentially Clinically Actionable Findings (CAF) in patient tumor and other samples. Based on individual patient data, alternative treatment options will be offered to patients.

The investigators will measure the frequency with which clinically actionable findings (CAF) that could impact current patient care decisions occur in tumor and other samples.

Determine whether CAF identified in the unique patient populations treated at the University of New Mexico Cancer Center differ from those identified in nationwide data sets such as The 1000 Genomes Project or The Cancer Genome Atlas (TCGA) data collections.

Identify the numbers and types technological, social, ethical and/or legal barriers that might limit the use of genomics information in patient care at the University of New Mexico Cancer Center and the University of New Mexico Health Sciences Center. The investigators will assess the frequency of use of CAF by local treating physicians. They will assess how often cancer treatment choice is altered as a result of providing CAF to physicians and patients. The investigators will assess how often identified CAF are entered into patient medical records. They will assess the frequency with which patients choose to receive information about potentially detrimental SF unrelated to their cancer care.

Identify other genomics-based findings in patient samples unrelated to cancer care, but which might impact other aspects of patients' health. These will be referred to as Secondary Findings, or SF. For example, if a SF is identified that suggests an increased risk of diabetes, this would be considered a secondary finding. This will be discussed by a panel of medical experts, and if patients wish to have this information returned to them, their doctor and genetic counselor will discuss the SF. Patients can choose not to have SF returned to them.

Determine whether SF identified in the unique patient populations treated at the University of New Mexico Cancer Center differ from those identified in nationwide samples such as The 1000 Genomes Project or The Cancer Genome Atlas (TCGA).

Study title	NCT ID	Conditions	Interventions	Eligibility	Organization
Analysis of Markers in the Blood Correlated With Neuropathic Pain	NCT02208206	Neuropathy		18 Years -	Charite University, Berlin, Germany
Prospective Screening for Patient-Specific Genotypes and Phenotypes That Influence Drug Dosing and Trial Selection in Cancer Patients	NCT02706652	Cancer		18 Years -	National Institutes of Health Clinical Center (CC)
Pharmacogenomics IND EXEMPT SNP Clinical Study - Etoposide and Single Nucleotide Polymorphisms	NCT01064466	Small Cell Lung...	ETOPOSIDE - Usu... ETOPOSIDE - Stu...	22 Years - 75 Years	Medicine Invention Design, Inc
Prospective Analysis of Genotypes in Adults Undergoing Therapy for Lung Cancer	NCT00923884	Carcinoma, Non-... Carcinoma, Smal...		18 Years - 100 Years	National Institutes of Health Clinical Center (CC)
CYP2D6 Genotype on the Clinical Effect of Tamoxifen	NCT00973037	Breast Neoplasm... Tamoxifen Genotype CYP2D6	Tamoxifen	18 Years - 45 Years	Korea University Anam Hospital
Analysis of Markers in the Blood Correlated With Neuropathic Pain	NCT02208206	Neuropathy		18 Years -	Charite University, Berlin, Germany
Hepatosplenic CANdidiasis : PETscan and Immune Response Analysis	NCT01916057	Invasive Fungal... Chronic Dissemi... Hematological M... Hematopoietic S... Neutropenia	18F-FDG PET Sca...	18 Years -	Assistance Publique - Hôpitaux de Paris
Genome Sequencing of Human Cancer Tissues	NCT02105545	Cancer	Cancer Treatmen...	-	New Mexico Cancer Care Alliance

Spots Global Cancer Trial Database for genotype

Every month we try and update this database with for genotype cancer trials from around the world to help patients and their families find trials that might be right for them.
We offer this 100% free of charge and do not endorse any of the trials listed here, we hope it helps you or a loved one.

Spots Global Cancer Trial Database for genotype

Every month we try and update this database with for genotype cancer trials from around the world to help patients and their families find trials that might be right for them. We offer this 100% free of charge and do not endorse any of the trials listed here, we hope it helps you or a loved one.

Every month we try and update this database with for genotype cancer trials from around the world to help patients and their families find trials that might be right for them.
We offer this 100% free of charge and do not endorse any of the trials listed here, we hope it helps you or a loved one.